Canonical Allele Identifier: CA2841257344

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389648G>A , CM000664.2:g.98389648G>A	GRCh38
NC_000002.11:g.99006111G>A , CM000664.1:g.99006111G>A	GRCh37
NC_000002.10:g.98372543G>A	NCBI36
NG_009097.1:g.48494G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.450-10G>A MANE Select	ENSP00000272602.2:n.450-10G>A
ENST00000272602.6:c.450-10G>A	ENSP00000272602.2:n.450-10G>A
ENST00000393503.2:n.455-10G>A
ENST00000393504.5:c.450-10G>A	ENSP00000377140.1:n.450-10G>A
ENST00000409937.1:c.462-10G>A	ENSP00000386761.1:n.462-10G>A
ENST00000436404.6:c.396-10G>A	ENSP00000410070.2:n.396-10G>A
NM_001079878.1:c.396-10G>A	NP_001073347.1:n.396-10G>A
NM_001298.2:c.450-10G>A	NP_001289.1:n.450-10G>A
XM_006712243.2:c.561-10G>A	XP_006712306.1:n.561-10G>A
XM_011510554.1:c.615-10G>A	XP_011508856.1:n.615-10G>A
XM_011510554.2:c.615-10G>A	XP_011508856.1:n.615-10G>A
NM_001079878.2:c.396-10G>A	NP_001073347.1:n.396-10G>A
NM_001298.3:c.450-10G>A MANE Select	NP_001289.1:n.450-10G>A